Living with Alport Syndrome

Alport syndrome is an inherited condition that affects kidney function, hearing, and eyesight. Its cause is mutations in one of three genes that encode for a protein called type IV collagen. The severity of the disease varies widely, depending on the type of mutation and the pattern of inheritance.

There are no ways of reversing or preventing the disease. Current treatments focus on alleviating symptoms.

Having a genetic disease means that Alport syndrome patients must think about the condition striking other family members and about whether they should have children.

Patients with the most severe symptoms — kidney failure and hearing loss — face the most difficult challenges, including changing their lifestyles to include treatments such as dialysis and hearing aids.

But there are measures patients can take to improve their quality of life and delay the start of the worst symptoms.

Diet and exercise

Exercising and diet changes can help patients improve their kidney health and reduce their likelihood of a heart attack by controlling their blood pressure and maintaining their levels of cholesterol.

Doctors can put patients on a low-salt, low-animal-protein diet and help them manage high blood pressure and cholesterol. They can also encourage exercise.

Physicians can also prescribe angiotensin-converting enzyme inhibitors to help protect patients’ kidneys. ACE inhibitors increase the body’s retention of potassium in the blood. This means people on the inhibitors should limit their potassium intake by avoiding dairy products, salt and salt substitutes, nuts, and certain fruits and vegetables.

Coping with kidney failure

Kidney failure is a common feature of Alport syndrome. A transplant can help patients recover the kidney function they lost, but there are long waiting lists for them. Until a donated organ is available, patients will need dialysis.

Many dialysis centers are willing to coordinate care with a center at a patient’s travel destination. Home dialysis patients can bring their own machines, supplies, and water treatment equipment so they can set up a treatment center wherever they are.

Living with a kidney transplant

After a transplant, patients will need regular tests to ensure that the transplanted kidney is functioning. They will also need medications that suppress their immune system for the rest of their life — to make sure their body does not reject their new kidneys.

A downside to the medications is that they reduce the immune system’s ability to respond to invaders, making patients more vulnerable to other diseases, such as skin cancer. To reduce the risk of skin cancer, patients will need to reduce their exposure to the sun.

Doctors will provide patients with instructions on fluid intake, diet and exercise immediately after a transplant and as time goes on.

Dealing with hearing loss

Many Alport patients experience progressive hearing loss. The loss can be so gradual that patients may not realize how severe it is until they try hearing aids for the first time. A range of hearing aids can help Alport patients regain some hearing.

Tinnitus, or ringing in the ears, is a symptom many Alport patients have. It can appear as a ringing sound or as a series of clicks or buzzing noises. People who have tinnitus can experience stress, sleep loss, or difficulty concentrating. Several treatment options are available to cope with tinnitus.

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Alport Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Disclaimer:

Alport Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

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